| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Spasticity
Bradykinesia Gait difficulties Intellectual developmental disorder Global developmental delay Cognitive impairment Muscular hypotonia Delayed speech and language development Abnormal central motor function Seizures Developmental delay/intellectual disability Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Bradykinesia
Cognitive impairment Microcephaly Developmental delay/intellectual disability Abnormal central motor function Muscular hypotonia Seizures Gait difficulties Delayed speech and language development Global developmental delay Intellectual developmental disorder Spasticity Autonomic sign/sympt. Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Seizures
Developmental delay/intellectual disability Cognitive impairment Bradykinesia Autonomic sign/sympt. Abnormal central motor function Global developmental delay Delayed speech and language development Muscular hypotonia Intellectual developmental disorder Spasticity Gait difficulties Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Dystonia (any or unspecified)
Developmental delay/intellectual disability Intellectual developmental disorder Muscular hypotonia Cognitive impairment Abnormal central motor function Gait difficulties Spasticity Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Muscular hypotonia
Developmental delay/intellectual disability Gait difficulties Intellectual developmental disorder Dystonia (any or unspecified) Spasticity Abnormal central motor function Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Delayed speech and language development
Cognitive impairment Abnormal central motor function Seizures Intellectual developmental disorder Spasticity Gait difficulties Global developmental delay Bradykinesia Developmental delay/intellectual disability Muscular hypotonia Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Cognitive impairment
Bradykinesia Delayed speech and language development Autonomic sign/sympt. Global developmental delay Gait difficulties Intellectual developmental disorder Developmental delay/intellectual disability Abnormal central motor function Seizures Spasticity Muscular hypotonia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Abnormal central motor function
Developmental delay/intellectual disability Muscular hypotonia Spasticity Bradykinesia Seizures Global developmental delay Gait difficulties Microcephaly Cognitive impairment Delayed speech and language development Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Bradykinesia
Global developmental delay Cognitive impairment Microcephaly Muscular hypotonia Developmental delay/intellectual disability Autonomic sign/sympt. Abnormal central motor function Gait difficulties Delayed speech and language development Spasticity Intellectual developmental disorder Seizures Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Seizures
Microcephaly Intellectual developmental disorder Developmental delay/intellectual disability Muscular hypotonia Cognitive impairment Gait difficulties Abnormal central motor function Delayed speech and language development Global developmental delay Spasticity Bradykinesia Show more (+9) |
n.a.
|